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Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients

✍ Scribed by Neal J. Weinreb; Mario C. Aggio; Hans C. Andersson; Generoso Andria; Joel Charrow; Joe T.R. Clarke; Anders Erikson; Pilar Giraldo; Jack Goldblatt; Carla Hollak; Hiroyuki Ida; Paige Kaplan; Edwin H. Kolodny; Pramod Mistry; Gregory M. Pastores; Ricardo Pires; Ainu Prakesh-Cheng; Barry E. Rosenbloom; C. Ronald Scott; Elisa Sobreira; Anna Tylki-Szymańska; Ashok Vellodi; Stephan vom Dahl; Rebecca S. Wappner; Ari Zimran


Book ID
117821830
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
116 KB
Volume
41
Category
Article
ISSN
1532-8686

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Human plasma chitotriosidase (Chito) is a useful diagnostic and therapeutic biomarker for Type 1 Gaucher disease (GD). However, approximately 40% of Caucasians are heterozygous or homozygous for a common null mutation, c.1049\_1072dup24 (dup24) in the chitotriosidase gene (chitinase 1, CHIT1), that